regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SMO_chr7_129183633_129218545 | 129184882 | TA | T | upstream_gene_variant | MODIFIER | HG01099.hp1 HG02258.hp2 HG02559.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0001a0001c0001t0006a0001c0001t0011others(1): Show | a0001c0001t0001g0026a0001c0001t0006g0017a0001c0001t0011g0097others(3): Show | 6 | 410 | 0.0146 | -1 | c.-42 others(6): Show |
SMO | ENSG00000128602.11 | transcript | ENST00000249373.8 | protein_coding | 3750 | chr7 | TogoVar | ||||||
SMO_chr7_129183633_129218545 | 129186716 | GA | G | upstream_gene_variant | MODIFIER | HG00733.hp1 HG01099.hp1 HG02559.hp2 others(12): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0026a0001c0002t0002others(6): Show | a0001c0001t0001g0002a0001c0001t0026g0063a0001c0002t0002g0142others(10): Show | 15 | 410 | 0.0366 | -1 | c.-24 others(6): Show |
SMO | ENSG00000128602.11 | transcript | ENST00000249373.8 | protein_coding | 1916 | chr7 | TogoVar | ||||||
SMO_chr7_129183633_129218545 | 129193786 | AT | A | intron_variant | MODIFIER | HG02273.hp2 HG02647.hp2 HG02818.hp1 |
a0001a0002 | a0001c0001a0002c0003a0002c0022 | a0001c0001t0009a0002c0003t0001a0002c0022t0001 | a0001c0001t0009g0141a0002c0003t0001g0083a0002c0022t0001g0080 | 3 | 410 | 0.0073 | -1 | c.331 others(9): Show |
SMO | ENSG00000128602.11 | transcript | ENST00000249373.8 | protein_coding | 1/11 | chr7 | TogoVar | ||||||
SMO_chr7_129183633_129218545 | 129197016 | CA | C | intron_variant | MODIFIER | HG00642.hp2 HG00738.hp2 HG01943.hp1 others(11): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0012others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(2): Show | a0001c0001t0001g0093a0001c0001t0002g0006a0001c0001t0002g0007others(6): Show | 14 | 410 | 0.0342 | -1 | c.332 others(9): Show |
SMO | ENSG00000128602.11 | transcript | ENST00000249373.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
SMO_chr7_129183633_129218545 | 129199182 | CT | C | intron_variant | MODIFIER | HG01257.hp1 HG03491.hp2 NA18964.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0018a0001c0001t0001g0117a0001c0001t0001g0138others(2): Show | 7 | 410 | 0.0171 | -1 | c.332 others(9): Show |
SMO | ENSG00000128602.11 | transcript | ENST00000249373.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
SMO_chr7_129183633_129218545 | 129204387 | TC | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(301): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0004a0001c0007others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(32): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(228): Show | 304 | 410 | 0.7415 | -1 | c.537 others(8): Show |
SMO | ENSG00000128602.11 | transcript | ENST00000249373.8 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
SMO_chr7_129183633_129218545 | 129206838 | GT | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(301): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0004a0001c0007others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(32): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(228): Show | 304 | 410 | 0.7415 | -1 | c.126 others(9): Show |
SMO | ENSG00000128602.11 | transcript | ENST00000249373.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
SMO_chr7_129183633_129218545 | 129207415 | TA | T | intron_variant | MODIFIER | HG01496.hp2 HG02055.hp2 HG02886.hp1 others(7): Show |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0129a0001c0002t0003g0145a0001c0002t0003g0155others(7): Show | 10 | 410 | 0.0244 | -1 | c.126 others(9): Show |
SMO | ENSG00000128602.11 | transcript | ENST00000249373.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
SMO_chr7_129183633_129218545 | 129207891 | TC | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(406): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0004others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(52): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(314): Show | 409 | 410 | 0.9976 | -1 | c.126 others(9): Show |
SMO | ENSG00000128602.11 | transcript | ENST00000249373.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
SMO_chr7_129183633_129218545 | 129211313 | CT | C | intron_variant | MODIFIER | HG01123.hp1 HG01934.hp1 HG04115.hp2 others(3): Show |
a0001 | a0001c0005 | a0001c0005t0013a0001c0005t0014a0001c0005t0015others(1): Show | a0001c0005t0013g0151a0001c0005t0013g0169a0001c0005t0014g0168others(2): Show | 6 | 410 | 0.0146 | -1 | c.180 others(9): Show |
SMO | ENSG00000128602.11 | transcript | ENST00000249373.8 | protein_coding | 10/11 | chr7 | TogoVar | ||||||
SMO_chr7_129183633_129218545 | 129213590 | CT | C | downstream_gene_variant | MODIFIER | HG01123.hp1 HG01433.hp2 HG01515.hp1 others(16): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0004others(4): Show | a0001c0001t0001g0025a0001c0001t0001g0054a0001c0001t0001g0124others(14): Show | 19 | 410 | 0.0463 | -1 | c.*11 others(6): Show |
SMO | ENSG00000128602.11 | transcript | ENST00000249373.8 | protein_coding | 46 | chr7 | TogoVar | ||||||
SMO_chr7_129183633_129218545 | 129217264 | CA | C | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00733.hp1 HG01069.hp1 others(74): Show |
a0001a0002a0008 | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0019a0001c0001t0025others(15): Show | a0001c0001t0001g0028a0001c0001t0001g0124a0001c0001t0001g0186others(64): Show | 77 | 410 | 0.1878 | -1 | c.*48 others(6): Show |
SMO | ENSG00000128602.11 | transcript | ENST00000249373.8 | protein_coding | 3720 | chr7 | TogoVar | ||||||
SMPD1_chr11_6385474_6399996 | 6386697 | TA | T | upstream_gene_variant | MODIFIER | HG01070.hp1 HG02040.hp1 HG03490.hp2 others(6): Show |
a0001a0003a0005 | a0001c0001a0003c0005a0005c0004others(1): Show | a0001c0001t0001a0001c0001t0006a0003c0005t0002others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0013a0001c0001t0006g0001others(3): Show | 9 | 388 | 0.0232 | -1 | c.-39 others(6): Show |
SMPD1 | ENSG00000166311.10 | transcript | ENST00000342245.9 | protein_coding | 3776 | chr11 | TogoVar | ||||||
SMPD1_chr11_6385474_6399996 | 6392329 | CT | C | intron_variant | MODIFIER | HG01099.hp1 HG02486.hp2 HG03041.hp2 others(6): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0005others(3): Show | a0001c0001t0001a0002c0002t0001a0003c0005t0001others(3): Show | a0001c0001t0001g0007a0002c0002t0001g0007a0002c0002t0001g0019others(4): Show | 9 | 388 | 0.0232 | -1 | c.109 others(9): Show |
SMPD1 | ENSG00000166311.10 | transcript | ENST00000342245.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
SMPD2_chr6_109435724_109448919 | 109437548 | CT | C | upstream_gene_variant | MODIFIER | HG00733.hp2 HG00735.hp2 HG01070.hp1 others(18): Show |
a0001a0002a0003 | a0001c0002a0001c0004a0002c0001others(1): Show | a0001c0002t0002a0001c0004t0001a0002c0001t0001others(2): Show | a0001c0002t0002g0002a0001c0004t0001g0004a0002c0001t0001g0001others(3): Show | 21 | 438 | 0.0480 | -1 | c.-35 others(6): Show |
SMPD2 | ENSG00000135587.9 | transcript | ENST00000258052.8 | protein_coding | 3175 | chr6 | TogoVar | ||||||
SMPD2_chr6_109435724_109448919 | 109442744 | TC | T | splice_region_variant others(1): Show |
LOW | HG00323.hp1 HG00544.hp1 HG01123.hp1 others(88): Show |
a0001a0004 | a0001c0002a0001c0004a0004c0005 | a0001c0002t0001a0001c0004t0001a0001c0004t0003others(1): Show | a0001c0002t0001g0003a0001c0002t0001g0009a0001c0004t0001g0003others(4): Show | 91 | 438 | 0.2078 | -1 | c.492 others(6): Show |
SMPD2 | ENSG00000135587.9 | transcript | ENST00000258052.8 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SMPD3_chr16_68353327_68453508 | 68360348 | TA | T | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(114): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0004a0001c0005others(7): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(22): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0014others(112): Show | 117 | 208 | 0.5625 | -1 | c.*85 others(5): Show |
SMPD3 | ENSG00000103056.12 | transcript | ENST00000219334.10 | protein_coding | 9/9 | 857 | chr16 | TogoVar | |||||
SMPD3_chr16_68353327_68453508 | 68363180 | CG | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(169): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0004others(14): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(45): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0014others(164): Show | 172 | 208 | 0.8269 | -1 | c.170 others(9): Show |
SMPD3 | ENSG00000103056.12 | transcript | ENST00000219334.10 | protein_coding | 7/8 | chr16 | TogoVar | ||||||
SMPD3_chr16_68353327_68453508 | 68367007 | CA | C | intron_variant | MODIFIER | HG00408.hp1 HG02040.hp1 HG02040.hp2 others(8): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0003others(2): Show | a0001c0001t0001g0014a0001c0001t0001g0016a0001c0001t0001g0153others(7): Show | 11 | 208 | 0.0529 | -1 | c.132 others(10): Show |
SMPD3 | ENSG00000103056.12 | transcript | ENST00000219334.10 | protein_coding | 3/8 | chr16 | TogoVar | ||||||
SMPD3_chr16_68353327_68453508 | 68369761 | GA | G | intron_variant | MODIFIER | HG00741.hp1 HG01070.hp2 HG01346.hp1 others(1): Show |
a0002 | a0002c0003 | a0002c0003t0011a0002c0003t0024a0002c0003t0025 | a0002c0003t0011g0033a0002c0003t0011g0134a0002c0003t0024g0135others(1): Show | 4 | 208 | 0.0192 | -1 | c.132 others(10): Show |
SMPD3 | ENSG00000103056.12 | transcript | ENST00000219334.10 | protein_coding | 3/8 | chr16 | TogoVar | ||||||
SMPD3_chr16_68353327_68453508 | 68393819 | TC | T | intron_variant | MODIFIER | HG02257.hp1 HG02622.hp1 HG02723.hp1 others(7): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0008 | a0001c0001t0005a0001c0001t0031a0001c0002t0027others(1): Show | a0001c0001t0005g0059a0001c0001t0005g0064a0001c0001t0005g0102others(7): Show | 10 | 208 | 0.0481 | -1 | c.-26 others(10): Show |
SMPD3 | ENSG00000103056.12 | transcript | ENST00000219334.10 | protein_coding | 1/8 | chr16 | TogoVar | ||||||
SMPD3_chr16_68353327_68453508 | 68396660 | TA | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(137): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0002a0001c0004others(12): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(33): Show | a0001c0001t0001g0014a0001c0001t0001g0016a0001c0001t0001g0018others(134): Show | 140 | 208 | 0.6731 | -1 | c.-26 others(11): Show |
SMPD3 | ENSG00000103056.12 | transcript | ENST00000219334.10 | protein_coding | 1/8 | chr16 | TogoVar | ||||||
SMPD3_chr16_68353327_68453508 | 68405545 | CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00408.hp2 others(81): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0009others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(21): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0045others(79): Show | 84 | 208 | 0.4039 | -1 | c.-26 others(11): Show |
SMPD3 | ENSG00000103056.12 | transcript | ENST00000219334.10 | protein_coding | 1/8 | chr16 | TogoVar | ||||||
SMPD3_chr16_68353327_68453508 | 68415804 | CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(144): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0002a0001c0004others(10): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(35): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0014others(140): Show | 147 | 208 | 0.7067 | -1 | c.-26 others(11): Show |
SMPD3 | ENSG00000103056.12 | transcript | ENST00000219334.10 | protein_coding | 1/8 | chr16 | TogoVar | ||||||
SMPD3_chr16_68353327_68453508 | 68426991 | CT | C | intron_variant | MODIFIER | HG00733.hp1 HG01099.hp1 HG01109.hp1 others(17): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(9): Show | a0001c0001t0001g0020a0001c0001t0001g0036a0001c0001t0001g0085others(17): Show | 20 | 208 | 0.0962 | -1 | c.-26 others(11): Show |
SMPD3 | ENSG00000103056.12 | transcript | ENST00000219334.10 | protein_coding | 1/8 | chr16 | TogoVar | ||||||
SMPD3_chr16_68353327_68453508 | 68435481 | AT | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(141): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0004others(11): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(35): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0014others(136): Show | 144 | 208 | 0.6923 | -1 | c.-26 others(11): Show |
SMPD3 | ENSG00000103056.12 | transcript | ENST00000219334.10 | protein_coding | 1/8 | chr16 | TogoVar | ||||||
SMPD3_chr16_68353327_68453508 | 68444524 | AT | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(151): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0004others(13): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(40): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0014others(146): Show | 154 | 208 | 0.7404 | -1 | c.-26 others(10): Show |
SMPD3 | ENSG00000103056.12 | transcript | ENST00000219334.10 | protein_coding | 1/8 | chr16 | TogoVar | ||||||
SMPD3_chr16_68353327_68453508 | 68449996 | CA | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(132): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0002a0001c0004others(10): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(32): Show | a0001c0001t0001g0005a0001c0001t0001g0014a0001c0001t0001g0016others(129): Show | 135 | 208 | 0.6490 | -1 | c.-19 others(6): Show |
SMPD3 | ENSG00000103056.12 | transcript | ENST00000219334.10 | protein_coding | 1489 | chr16 | TogoVar | ||||||
SMPD3_chr16_68353327_68453508 | 68450447 | CT | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(139): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0004others(11): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(33): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0014others(134): Show | 142 | 208 | 0.6827 | -1 | c.-23 others(6): Show |
SMPD3 | ENSG00000103056.12 | transcript | ENST00000219334.10 | protein_coding | 1940 | chr16 | TogoVar | ||||||
SMPD3_chr16_68353327_68453508 | 68451715 | TA | T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(151): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0004others(13): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(39): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0014others(146): Show | 154 | 208 | 0.7404 | -1 | c.-36 others(6): Show |
SMPD3 | ENSG00000103056.12 | transcript | ENST00000219334.10 | protein_coding | 3208 | chr16 | TogoVar | ||||||
SMPD4_chr2_130146408_130186602 | 130146824 | CA | C | downstream_gene_variant | MODIFIER | HG01169.hp1 HG02293.hp2 HG02895.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(2): Show | a0001c0001t0001g0064a0001c0001t0001g0069a0001c0001t0001g0088others(5): Show | 8 | 332 | 0.0241 | -1 | c.*57 others(6): Show |
SMPD4 | ENSG00000136699.20 | transcript | ENST00000680298.1 | protein_coding | 4583 | chr2 | TogoVar | ||||||
SMPD4_chr2_130146408_130186602 | 130147248 | CA | C | downstream_gene_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG02897.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0002 | a0001c0001t0001g0074a0001c0001t0003g0009a0001c0002t0002g0153others(3): Show | 6 | 332 | 0.0181 | -1 | c.*53 others(6): Show |
SMPD4 | ENSG00000136699.20 | transcript | ENST00000680298.1 | protein_coding | 4159 | chr2 | TogoVar | ||||||
SMPD4_chr2_130146408_130186602 | 130159637 | CA | C | intron_variant | MODIFIER | HG01070.hp2 NA18747.hp1 NA18944.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0041a0001c0001t0001g0098a0001c0001t0001g0099others(2): Show | 6 | 332 | 0.0181 | -1 | c.951 others(9): Show |
SMPD4 | ENSG00000136699.20 | transcript | ENST00000680298.1 | protein_coding | 11/19 | chr2 | TogoVar | ||||||
SMPD4_chr2_130146408_130186602 | 130165108 | TA | T | intron_variant | MODIFIER | HG00558.hp1 HG00733.hp2 HG01243.hp1 others(25): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(5): Show | a0001c0001t0001g0005a0001c0001t0001g0051a0001c0001t0001g0052others(20): Show | 28 | 332 | 0.0843 | -1 | c.793 others(8): Show |
SMPD4 | ENSG00000136699.20 | transcript | ENST00000680298.1 | protein_coding | 9/19 | chr2 | TogoVar | ||||||
SMPD4_chr2_130146408_130186602 | 130166308 | CA | C | intron_variant | MODIFIER | HG01069.hp1 HG01069.hp2 HG01168.hp1 others(25): Show |
a0001 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(5): Show | a0001c0001t0001g0053a0001c0001t0001g0060a0001c0001t0001g0064others(21): Show | 28 | 332 | 0.0843 | -1 | c.792 others(9): Show |
SMPD4 | ENSG00000136699.20 | transcript | ENST00000680298.1 | protein_coding | 9/19 | chr2 | TogoVar | ||||||
SMPD4_chr2_130146408_130186602 | 130177694 | CA | C | intron_variant | MODIFIER | HG01169.hp2 HG01175.hp1 HG01516.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0029a0001c0002t0002g0138a0001c0002t0002g0153others(2): Show | 6 | 332 | 0.0181 | -1 | c.-45 others(9): Show |
SMPD4 | ENSG00000136699.20 | transcript | ENST00000680298.1 | protein_coding | 1/19 | chr2 | TogoVar | ||||||
SMPD4_chr2_130146408_130186602 | 130179122 | CT | C | intron_variant | MODIFIER | HG01123.hp1 HG01243.hp1 HG02055.hp2 others(19): Show |
a0001a0002a0007others(1): Show | a0001c0001a0001c0005a0001c0006others(4): Show | a0001c0001t0003a0001c0001t0009a0001c0005t0002others(5): Show | a0001c0001t0003g0042a0001c0001t0003g0046a0001c0001t0003g0047others(17): Show | 22 | 332 | 0.0663 | -1 | c.-46 others(9): Show |
SMPD4 | ENSG00000136699.20 | transcript | ENST00000680298.1 | protein_coding | 1/19 | chr2 | TogoVar | ||||||
SMPD4_chr2_130146408_130186602 | 130179970 | CT | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(129): Show |
a0001a0002a0003others(3): Show | a0001c0002a0001c0004a0001c0005others(6): Show | a0001c0002t0002a0001c0002t0004a0001c0002t0005others(10): Show | a0001c0002t0002g0002a0001c0002t0002g0004a0001c0002t0002g0010others(101): Show | 132 | 332 | 0.3976 | -1 | c.-46 others(9): Show |
SMPD4 | ENSG00000136699.20 | transcript | ENST00000680298.1 | protein_coding | 1/19 | chr2 | TogoVar | ||||||
SMPD4_chr2_130146408_130186602 | 130185479 | CA | C | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00544.hp1 HG00558.hp2 others(187): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0006a0001c0007others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(17): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(134): Show | 190 | 332 | 0.5723 | -1 | c.-39 others(6): Show |
SMPD4 | ENSG00000136699.20 | transcript | ENST00000680298.1 | protein_coding | 3878 | chr2 | TogoVar | ||||||
SMPDL3A_chr6_122784258_122814720 | 122793972 | GA | G | intron_variant | MODIFIER | HG00741.hp1 HG01081.hp2 HG01243.hp2 others(15): Show |
a0003 | a0003c0004a0003c0009a0003c0021 | a0003c0004t0001a0003c0004t0004a0003c0009t0001others(2): Show | a0003c0004t0001g0096a0003c0004t0001g0097a0003c0004t0004g0004others(8): Show | 18 | 442 | 0.0407 | -1 | c.113 others(9): Show |
SMPDL3A | ENSG00000172594.13 | transcript | ENST00000368440.5 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SMPDL3A_chr6_122784258_122814720 | 122799961 | CT | C | intron_variant | MODIFIER | HG00558.hp1 HG01074.hp1 HG01934.hp1 others(5): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0057a0001c0001t0001g0154a0001c0001t0001g0261others(5): Show | 8 | 442 | 0.0181 | -1 | c.472 others(9): Show |
SMPDL3A | ENSG00000172594.13 | transcript | ENST00000368440.5 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SMPDL3A_chr6_122784258_122814720 | 122800731 | CT | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(292): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0006others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(204): Show | 295 | 442 | 0.6674 | -1 | c.472 others(8): Show |
SMPDL3A | ENSG00000172594.13 | transcript | ENST00000368440.5 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SMPDL3A_chr6_122784258_122814720 | 122800737 | TG | T | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00544.hp1 others(101): Show |
a0001a0003a0005 | a0001c0001a0001c0003a0003c0009others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0013others(61): Show | 104 | 442 | 0.2353 | -1 | c.472 others(8): Show |
SMPDL3A | ENSG00000172594.13 | transcript | ENST00000368440.5 | protein_coding | 3/7 | chr6 | TogoVar | ||||||
SMPDL3A_chr6_122784258_122814720 | 122803984 | CT | C | intron_variant | MODIFIER | HG00280.hp2 HG01167.hp1 HG01167.hp2 others(7): Show |
a0001a0002a0003 | a0001c0001a0001c0006a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0006t0002others(2): Show | a0001c0001t0001g0102a0001c0001t0001g0112a0001c0001t0001g0113others(7): Show | 10 | 442 | 0.0226 | -1 | c.738 others(8): Show |
SMPDL3A | ENSG00000172594.13 | transcript | ENST00000368440.5 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SMPDL3A_chr6_122784258_122814720 | 122807081 | TG | T | intron_variant | MODIFIER | HG00642.hp2 HG01243.hp1 HG01257.hp2 others(78): Show |
a0001a0004a0007others(3): Show | a0001c0001a0001c0003a0001c0007others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0002a0001c0001t0001g0012a0001c0001t0001g0018others(52): Show | 81 | 442 | 0.1833 | -1 | c.104 others(9): Show |
SMPDL3A | ENSG00000172594.13 | transcript | ENST00000368440.5 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SMPDL3A_chr6_122784258_122814720 | 122809528 | CT | C | 3_prime_UTR_variant | MODIFIER | HG00323.hp2 HG00738.hp1 HG00741.hp1 others(52): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0006a0001c0007others(5): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(9): Show | a0001c0001t0003g0007a0001c0001t0003g0017a0001c0001t0003g0034others(35): Show | 55 | 442 | 0.1244 | -1 | c.*13 others(5): Show |
SMPDL3A | ENSG00000172594.13 | transcript | ENST00000368440.5 | protein_coding | 8/8 | 131 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||
SMPDL3A_chr6_122784258_122814720 | 122811419 | CA | C | downstream_gene_variant | MODIFIER | HG02451.hp1 HG02622.hp1 HG02647.hp2 others(4): Show |
a0001 | a0001c0001a0001c0006a0001c0008 | a0001c0001t0003a0001c0006t0003a0001c0008t0003 | a0001c0001t0003g0007a0001c0006t0003g0089a0001c0008t0003g0076others(2): Show | 7 | 442 | 0.0158 | -1 | c.*20 others(6): Show |
SMPDL3A | ENSG00000172594.13 | transcript | ENST00000368440.5 | protein_coding | 1700 | chr6 | TogoVar | ||||||
SMPDL3A_chr6_122784258_122814720 | 122814504 | AG | A | downstream_gene_variant | MODIFIER | HG02615.hp1 HG03130.hp1 NA18522.hp1 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0002a0001c0007t0002 | a0001c0001t0002g0088a0001c0001t0002g0255a0001c0007t0002g0090 | 3 | 442 | 0.0068 | -1 | c.*50 others(6): Show |
SMPDL3A | ENSG00000172594.13 | transcript | ENST00000368440.5 | protein_coding | 4785 | chr6 | TogoVar | ||||||
SMPDL3A_chr6_122784258_122814720 | 122814599 | CA | C | downstream_gene_variant | MODIFIER | HG02572.hp2 HG02886.hp1 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0058a0001c0001t0002g0059a0001c0001t0002g0250 | 3 | 442 | 0.0068 | -1 | c.*51 others(6): Show |
SMPDL3A | ENSG00000172594.13 | transcript | ENST00000368440.5 | protein_coding | 4880 | chr6 | TogoVar | ||||||
SMPDL3B_chr1_27930000_27964152 | 27930832 | CT | C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00408.hp1 others(83): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0011a0001c0001t0012others(6): Show | a0001c0001t0001g0012a0001c0001t0001g0026a0001c0001t0001g0198others(42): Show | 86 | 432 | 0.1991 | -1 | c.-43 others(6): Show |
SMPDL3B | ENSG00000130768.15 | transcript | ENST00000373894.8 | protein_coding | 4167 | chr1 | TogoVar |